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1دورية أكاديمية
المؤلفون: Barkovich, Anthony, Wheway, G, Schmidts, M, Mans, DA, Szymanska, K, Nguyen, TMT, Racher, H, Phelps, IG, Toedt, G, Kennedy, J, Wunderlich, KA
URL الوصول: https://escholarship.org/uc/item/6gn7s3sb
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المؤلفون: Wheway, G, Schmidts, M, Mans, DA, Szymanska, K, Nguyen, TT, Racher, H, Phelps, IG, Toedt, G, Kennedy, J, Wunderlich, KA, Sorusch, N, Abdelhamed, ZA, Natarajan, S, Herridge, W, van Reeuwijk, J, Horn, N, Boldt, K, Parry, DA, Letteboer, SJ, Roosing, S, Adams, M, Bell, SM, Bond, J, Higgins, J, Morrison, EE, Tomlinson, DC, Slaats, GG, van Dam, TJ, Huang, L, Kessler, K, Giessl, A, Logan, CV, Boyle, EA, Shendure, J, Anazi, S, Aldahmesh, M, Al Hazzaa, S, Hegele, RA, Ober, C, Frosk, P, Mhanni, AA, Chodirker, BN, Chudley, AE, Lamont, R, Bernier, FP, Beaulieu, CL, Gordon, P, Pon, RT, Donahue, C, Barkovich, AJ, Wolf, L, Toomes, C, Thiel, CT, Boycott, KM, McKibbin, M, Inglehearn, CF, UK10K Consortium, University ofWashington Center forMendelian Genomics, Stewart, F, Omran, H, Huynen, MA, Sergouniotis, PI, Alkuraya, FS, Parboosingh, JS, Innes, AM, Willoughby, CE, Giles, RH, Webster, AR, Ueffing, M, Blacque, O, Gleeson, JG, Wolfrum, U, Beales, PL, Gibson, T, Doherty, D, Mitchison, HM, Roepman, R, Johnson, CA
وصف الملف: application/pdf
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المؤلفون: Schmidts, M, Hou, Y, Cortés, CR, Mans, DA, Huber, C, Boldt, K, Patel, M, Van Reeuwijk, J, Plaza, JM, Van Beersum, SEC, Yap, ZM, Letteboer, SJF, Taylor, SP, Herridge, W, Johnson, CA, Scambler, PJ, Ueffing, M, Kayserili, H, Krakow, D, King, SM, Beales, PL, Al-Gazali, L, Wicking, C, Cormier-Daire, V, Roepman, R, Mitchison, HM, Witman, GB, UK 10K
المساهمون: Raymond, Lucy [0000-0003-2652-3355], Apollo - University of Cambridge Repository
المصدر: Nature Communications
مصطلحات موضوعية: Ellis-Van Creveld Syndrome, Dyneins, Penetrance, Cytoskeletal Proteins, Mice, HEK293 Cells, Flagella, Gene Knockdown Techniques, Mutation, Animals, Humans, sense organs, Chlamydomonas reinhardtii, Zebrafish
وصف الملف: application/pdf
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4دورية أكاديمية
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5دورية أكاديمية
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المؤلفون: Boldt, Karsten, van Reeuwijk, Jeroen, Dougherty, Gerard, Lamers, Ideke J C, Coene, Karlien L M, Arts, Heleen H, Betts, Matthew J, Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Lu, Qianhao, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J F, Marcelis, Carlo L, Mitic, Dragana, Morleo, Manuela, Oud, Machteld M, Koutroumpas, Konstantinos, Riemersma, Moniek, Rix, Susan, Terhal, Paulien A, Toedt, Grischa, van Dam, Teunis J P, de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L, Nguyen, Thanh-Minh T, Blacque, Oliver E, Gibson, Toby J, Huynen, Martijn A, Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E, Texier, Yves, Franco, Brunella, Giles, Rachel H, Ueffing, Marius, Russell, Robert B, Roepman, Ronald, Group, UK10K Rare Diseases, Al-Turki, Saeed, Anderson, Carl, Antony, Dinu, Barroso, Inês, van Beersum, Sylvia E C, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Danecek, Petr, Durbin, Richard, Fitzpatrick, David, Floyd, Jamie, Horn, Nicola, Reghan Foley, A., Franklin, Chris, Futema, Marta, Humphries, Steve E, Hurles, Matt, Joyce, Chris, McCarthy, Shane, Mitchison, Hannah M, Muddyman, Dawn, Muntoni, Francesco, Willer, Jason R, O'Rahilly, Stephen, Onoufriadis, Alexandros, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David B, Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert, Mans, Dorus A, Serra, Eva, Stalker, Jim, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Whittall, Ros, Williamson, Kathy
المساهمون: Boldt, K, van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, Tmt, Texier, Y, van Beersum, Sec, Horn, N, Willer, Jr, Mans, Da, Dougherty, G, Lamers, Ijc, Coene, Klm, Arts, Hh, Betts, Mj, Beyer, T, Bolat, E, Gloeckner, Cj, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, Sjf, Marcelis, Cl, Mitic, D, Morleo, M, Oud, Mm, Riemersma, M, Rix, S, Terhal, Pa, Toedt, G, van Dam, Tjp, de Vrieze, E, Wissinger, Y, Wu, Km, Apic, G, Beales, Pl, Blacque, Oe, Gibson, Tj, Huynen, Ma, Katsanis, N, Kremer, H, Omran, H, van Wijk, E, Wolfrum, U, Kepes, F, Davis, Ee, Franco, B, Giles, Rh, Ueffing, M, Russell, Rb, Roepman, R, Boldt, Karsten, Van Reeuwijk, Jeroen, Lu, Qianhao, Koutroumpas, Konstantino, Nguyen, Thanh Minh T., Texier, Yve, Van Beersum, Sylvia E. C., Horn, Nicola, Willer, Jason R., Mans, Dorus A., Dougherty, Gerard, Lamers, Ideke J. C., Coene, Karlien L. M., Arts, Heleen H., Betts, Matthew J., Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johanne, Haidari, Khatera, Hetterschijt, Lisette, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J. F., Marcelis, Carlo L., Mitic, Dragana, Morleo, Manuela, Oud, Machteld M., Riemersma, Moniek, Rix, Susan, Terhal, Paulien A., Toedt, Grischa, Van Dam, Teunis J. P., De Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Al Turki, Saeed, Anderson, Carl, Antony, Dinu, Barroso, Inê, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Danecek, Petr, Durbin, Richard, Fitzpatrick, David, Floyd, Jamie, Foley, A. Reghan, Franklin, Chri, Futema, Marta, Humphries, Steve E., Hurles, Matt, Joyce, Chri, Mccarthy, Shane, Mitchison, Hannah M., Muddyman, Dawn, Muntoni, Francesco, O'Rahilly, Stephen, Onoufriadis, Alexandro, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David B., Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert, Serra, Eva, Stalker, Jim, Van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Whittall, Ro, Williamson, Kathy, Apic, Gordana, Beales, Philip L., Blacque, Oliver E., Gibson, Toby J., Huynen, Martijn A., Katsanis, Nichola, Kremer, Hannie, Omran, Heymut, Van Wijk, Erwin, Wolfrum, Uwe, Kepes, Françoi, Davis, Erica E., Franco, Brunella, Giles, Rachel H., Ueffing, Mariu, Russell, Robert B., Roepman, Ronald
المصدر: Nature Communications 7(1), 11491 (2016). doi:10.1038/ncomms11491
Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, T M T, Texier, Y, Van Beersum, S E C, Horn, N, Willer, J R, Mans, D A, Dougherty, G, Lamers, I J C, Coene, K L M, Arts, H H, Betts, M J, Beyer, T, Bolat, E, Gloeckner, C J, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, S J F, Marcelis, C L, Mitic, D, Morleo, M, Oud, M M, Riemersma, M, Rix, S, Terhal, P A, Toedt, G, Van Dam, T J P, De Vrieze, E, Wissinger, Y, Wu, K M, Al-Turki, S, Anderson, C, Antony, D, Barroso, I, Bentham, J, Bhattacharya, S, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Danecek, P, Durbin, R, Fitzpatrick, D, Floyd, J, Foley, A R, Franklin, C, Futema, M, Humphries, S E, Hurles, M, Joyce, C, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Payne, F, Plagnol, V, Raymond, L, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R, Serra, E, Stalker, J, Van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Whittall, R, Williamson, K, Apic, G, Beales, P L, Blacque, O E, Gibson, T J, Huynen, M A, Katsanis, N, Kremer, H, Omran, H, Van Wijk, E, Wolfrum, U, Kepes, F, Davis, E E, Franco, B, Giles, R H, Ueffing, M, Russell, R B & Roepman, R 2016, ' An organelle-specific protein landscape identifies novel diseases and molecular mechanisms ', Nature Communications, vol. 7, 11491 . https://doi.org/10.1038/ncomms11491
Nat. Commun. 7:11491 (2016)
Nature Communications
Nature Communications, 7, 11491-11491
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Nature Communications, 7, pp. 11491-11491مصطلحات موضوعية: Proteomics, 0301 basic medicine, Systems Analysis, DNA Mutational Analysis, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], General Physics and Astronomy, Datasets as Topic, methods [Chromatography, Affinity], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Chromatography, Affinity, Mass Spectrometry, Protein Interaction Mapping, therapy [Ciliopathies], genetics [Ciliopathies], methods [Molecular Targeted Therapy], Molecular Targeted Therapy, Protein Interaction Maps, Multidisciplinary, Cilium, Chemistry (all), abnormalities [Spine], pathology [Ciliopathies], genetics [Muscle Hypotonia], therapy [Muscle Hypotonia], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], metabolism [Proteins], isolation & purification [Proteins], physiology [Biological Transport], 3. Good health, Cell biology, Vesicular transport protein, pathology [Dwarfism], metabolism [Cilia], Muscle Hypotonia, ddc:500, pathology [Muscle Hypotonia], pathology [Spine], genetics [Dwarfism], Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Science, Dwarfism, Exocyst, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Physics and Astronomy (all), 03 medical and health sciences, Intraflagellar transport, Ciliogenesis, Organelle, Humans, Cilia, Biochemistry, Genetics and Molecular Biology (all), Proteins, Biological Transport, General Chemistry, therapy [Dwarfism], Fibroblasts, genetics [Proteins], Ciliopathies, Spine, methods [Protein Interaction Mapping], Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Proteostasis, HEK293 Cells, methods [Proteomics]
وصف الملف: application/pdf
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7دورية أكاديمية
المؤلفون: van Dam TJP; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; Theoretical Biology and Bioinformatics, Science faculty, Utrecht University, Utrecht, the Netherlands., Kennedy J; School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland., van der Lee R; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands., de Vrieze E; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Wunderlich KA; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany., Rix S; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Dougherty GW; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Lambacher NJ; School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland.; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Li C; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Jensen VL; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Leroux MR; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Hjeij R; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Horn N; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., Texier Y; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., Wissinger Y; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., van Reeuwijk J; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Wheway G; Section of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom., Knapp B; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany., Scheel JF; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany., Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics, Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Mans DA; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., van Wijk E; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Képès F; Institute of Systems and Synthetic Biology (iSSB), Genopole, CNRS, Univ. Evry, France., Slaats GG; Dept. Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, the Netherlands., Toedt G; Structural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany., Kremer H; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Omran H; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Szymanska K; Section of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom., Koutroumpas K; Institute of Systems and Synthetic Biology (iSSB), Genopole, CNRS, Univ. Evry, France., Ueffing M; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., Nguyen TT; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Letteboer SJF; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Oud MM; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., van Beersum SEC; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Schmidts M; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany., Beales PL; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Lu Q; Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.; Bioquant/Cell Networks, Heidelberg, Germany., Giles RH; Dept. Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, the Netherlands., Szklarczyk R; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands., Russell RB; Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.; Bioquant/Cell Networks, Heidelberg, Germany., Gibson TJ; Structural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany., Johnson CA; Section of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom., Blacque OE; School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland., Wolfrum U; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany., Boldt K; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., Roepman R; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Hernandez-Hernandez V; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Huynen MA; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.
المصدر: PloS one [PLoS One] 2019 May 16; Vol. 14 (5), pp. e0216705. Date of Electronic Publication: 2019 May 16 (Print Publication: 2019).
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
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8دورية أكاديمية
المؤلفون: Ta-Shma A; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Hjeij R; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Perles Z; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Dougherty GW; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Abu Zahira I; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Letteboer SJF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands., Antony D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands.; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Freiburg, Germany., Darwish A; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Mans DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands., Spittler S; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Edelbusch C; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Cindrić S; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Nöthe-Menchen T; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Olbrich H; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Stuhlmann F; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Aprea I; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Pennekamp P; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Loges NT; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Breuer O; Pediatric Pulmonology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Rein AJJT; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Gulec EY; University of Health Sciences, Kanuni Sultan Suleyman, Training and Research Hospital, Department of Medical Genetics, Istanbul, Turkey., Gezdirici A; University of Health Sciences, Kanuni Sultan Suleyman, Training and Research Hospital, Department of Medical Genetics, Istanbul, Turkey., Abitbul R; Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar Ilan University, Safed, Israel., Elias N; Saint Vincent Hospital, Nazareth, Faculty of Medicine, Bar Ilan University, Israel., Amirav I; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.; Pediatric Pulmonology Unit, Tel Aviv Medical Center, Tel Aviv, Israel., Schmidts M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands.; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Freiburg, Germany., Roepman R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands., Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Omran H; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
المصدر: PLoS genetics [PLoS Genet] 2018 Aug 27; Vol. 14 (8), pp. e1007602. Date of Electronic Publication: 2018 Aug 27 (Print Publication: 2018).
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
مواضيع طبية MeSH: Codon, Nonsense* , Homozygote*, Functional Laterality/*genetics , Infertility, Male/*genetics , Nuclear Proteins/*metabolism, Adolescent ; Adult ; Animals ; Axonemal Dyneins/genetics ; Axonemal Dyneins/metabolism ; Axoneme/metabolism ; Cell Cycle Proteins ; Child ; Child, Preschool ; Cilia/ultrastructure ; Female ; Gene Expression Regulation ; Genetic Linkage ; Humans ; Infant ; Male ; Mice ; Mice, Knockout ; Middle Aged ; Nuclear Proteins/deficiency ; Nuclear Proteins/genetics ; Pedigree ; Polymorphism, Single Nucleotide ; Sperm Tail ; Exome Sequencing ; Young Adult
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9دورية أكاديمية
المؤلفون: Wills ES; Department of Gastroenterology and Hepatology, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Te Morsche RHM; Department of Gastroenterology and Hepatology, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., van Reeuwijk J; Department of Human Genetics and Radboud Insitute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Horn N; Division of Experimental Ophthalmology and Medical Bioanalytics, Center for Ophthalmology, Eberhard-Karls University Tübingen, 72076, Tübingen, Germany., Geomini I; Department of Gastroenterology and Hepatology, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., van de Laarschot LFM; Department of Gastroenterology and Hepatology, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Mans DA; Department of Human Genetics and Radboud Insitute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Ueffing M; Division of Experimental Ophthalmology and Medical Bioanalytics, Center for Ophthalmology, Eberhard-Karls University Tübingen, 72076, Tübingen, Germany., Boldt K; Division of Experimental Ophthalmology and Medical Bioanalytics, Center for Ophthalmology, Eberhard-Karls University Tübingen, 72076, Tübingen, Germany., Drenth JPH; Department of Gastroenterology and Hepatology, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Roepman R; Department of Human Genetics and Radboud Insitute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
المصدر: Human molecular genetics [Hum Mol Genet] 2017 Nov 01; Vol. 26 (21), pp. 4190-4202.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
مواضيع طبية MeSH: Cilia/*pathology , Cysts/*metabolism , Cysts/*pathology , Glucosidases/*metabolism , Intracellular Signaling Peptides and Proteins/*metabolism , Liver Diseases/*metabolism , Liver Diseases/*pathology , Membrane Proteins/*metabolism, Calcium-Binding Proteins ; Cilia/genetics ; Cilia/metabolism ; Cysts/genetics ; Endoplasmic Reticulum/pathology ; Gene Knockout Techniques ; Glucosidases/genetics ; HEK293 Cells ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Liver/metabolism ; Liver/pathology ; Liver Diseases/genetics ; Low Density Lipoprotein Receptor-Related Protein-5/genetics ; Low Density Lipoprotein Receptor-Related Protein-5/metabolism ; Membrane Proteins/genetics ; Molecular Chaperones ; RNA-Binding Proteins ; Wnt Signaling Pathway ; Wnt1 Protein/genetics ; Wnt1 Protein/metabolism ; alpha-Glucosidases/metabolism ; beta Catenin/genetics ; beta Catenin/metabolism
SCR Disease Name: Polycystic liver disease
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10دورية أكاديميةA novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
المؤلفون: Oud MM; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands., Bonnard C; Laboratory of Human Embryology & Genetics, Institute of Medical Biology, ASTAR, Singapore, Singapore., Mans DA; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands., Altunoglu U; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Tohari S; Institute of Molecular and Cell Biology, ASTAR, Singapore, Singapore., Ng AYJ; Institute of Molecular and Cell Biology, ASTAR, Singapore, Singapore., Eskin A; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, USA., Lee H; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, USA., Rupar CA; Department of Biochemistry, University of Western Ontario, Room 4212A, 1151 Richmond Street N, N6A 5B7 London, ON Canada.; Medical Genetics Program, London Health Sciences Centre, London, ON Canada.; Children's Health Research Institute, London, ON Canada., de Wagenaar NP; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands., Wu KM; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands., Lahiry P; Department of Paediatrics, The Hospital for Sick Children, Toronto, ON Canada., Pazour GJ; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA USA., Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, USA., Hegele RA; Department of Biochemistry, University of Western Ontario, Room 4212A, 1151 Richmond Street N, N6A 5B7 London, ON Canada.; Robarts Research Institute, London, ON Canada., Roepman R; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands., Kayserili H; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey., Venkatesh B; Institute of Molecular and Cell Biology, ASTAR, Singapore, Singapore., Siu VM; Department of Biochemistry, University of Western Ontario, Room 4212A, 1151 Richmond Street N, N6A 5B7 London, ON Canada.; Medical Genetics Program, London Health Sciences Centre, London, ON Canada.; Children's Health Research Institute, London, ON Canada., Reversade B; Laboratory of Human Embryology & Genetics, Institute of Medical Biology, ASTAR, Singapore, Singapore., Arts HH; Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.; Department of Biochemistry, University of Western Ontario, Room 4212A, 1151 Richmond Street N, N6A 5B7 London, ON Canada.; Children's Health Research Institute, London, ON Canada.; Robarts Research Institute, London, ON Canada.
المصدر: Cilia [Cilia] 2016 Apr 11; Vol. 5, pp. 8. Date of Electronic Publication: 2016 Apr 11 (Print Publication: 2016).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Biomed Central Country of Publication: England NLM ID: 101585639 Publication Model: eCollection Cited Medium: Print ISSN: 2046-2530 (Print) Linking ISSN: 20462530 NLM ISO Abbreviation: Cilia Subsets: PubMed not MEDLINE
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